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The Missing ApoE Allele

The Missing ApoE Allele The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ɛ2, ɛ3 and ɛ4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T‐T, T‐C and C‐C haplotypes corresponding to the ɛ2, ɛ3 and ɛ4 alleles are well known, the last C‐T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as ɛ3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of ɛ3r remains to be explained, and requires further investigation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

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References (32)

Publisher
Wiley
Copyright
Copyright © 2007 Wiley Subscription Services
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.2006.00344.x
pmid
17244188
Publisher site
See Article on Publisher Site

Abstract

The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ɛ2, ɛ3 and ɛ4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T‐T, T‐C and C‐C haplotypes corresponding to the ɛ2, ɛ3 and ɛ4 alleles are well known, the last C‐T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as ɛ3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of ɛ3r remains to be explained, and requires further investigation.

Journal

Annals of Human GeneticsWiley

Published: Jan 1, 2007

Keywords: ; ; ; ;

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